The congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders of erythropoiesis characterized by pathologic deposits of iron in the mitochondria of developing erythroblasts. Mutations in the mitochondrial glycine carrier SLC25A38 cause the most common recessive form of CSA. Nonetheless, the disease is still rare, there being fewer than 70 reported families. Here we describe the clinical phenotype and genotypes of 31 individuals from 24 families, including 11 novel mutations. We also review the spectrum of reported mutations and genotypes associated with the disease, describe the unique localization of missense mutations in transmembrane domains and account for the reoccurrence of several alleles in different populations.
Objective: Children presenting in diabetic ketoacidosis (DKA) may require a central venous catheter (CVC) to adequately manage their supportive care. These children are at increased risk of developing CVC-associated venous thromboembolism (VTE), but no predictive indicators have been identified to foretell which patients are at greatest risk. We analyzed demographic and laboratory data from children with DKA undergoing CVC placement to determine which patients may be at increased risk of CVC-associated VTE. Design: A retrospective chart review was conducted for patients aged 0-5 years admitted with DKA, CVC placement, and possible subsequent VTE development over ten years at a single institution. Reported demographic and laboratory variables were compared amongst patients that developed VTE and those that did not using Mann-Whitney rank sum tests. CVC-associated VTE incidence was also compared between children with DKA and all other patients undergoing CVC placement. Results: We identified 149 children with DKA, 17 underwent CVC placement, and 9/17 (52.9%) developed CVC-associated VTE. Length of hospital stay was the only significant difference between those that developed VTE and those that did not. Also, the prevalence of catheter associated VTE in DKA (1.7%) was significantly higher than that for CVC placement for any other reason (p<0.001). Conclusions: Careful consideration for CVC placement and minimizing duration of catheter use is suggested in this high risk population. Given the extremely high risk and lack of identifiable predictors, anticoagulation prophylaxis should be strongly considered for all young children with DKA requiring CVC placement.